20-year-old Lily loves Taylor Swift. Her favorite song is the 10-minute version of “All Too Well.” She recently performed in her school’s musical production of Legally Blonde. And after swimming with her high school team for three years, Lily is now competing with the Regis College swim team. Lily also has a rare genetic disorder caused by a difference in her STXBP1 gene, which can cause a wide range of neurodevelopmental disabilities. By participating in research at Children’s Hospital of Philadelphia (CHOP), Lily is helping to inform treatment for future children and teens with STXBP1-related disorders.

STXBP1 disorders affect how neurons communicate, often leading to epilepsy, developmental delays, speech and feeding issues, as well as movement disorders. Even though these symptoms are often prominent in many children affected by STXBP1-related disorders, genetic testing is required to make the diagnosis, as it is almost always entirely unexpected. There is no cure for STXBP1-related disorders; instead, treatment is focused on managing symptoms, which can range from mild – as in Lily’s case – or very severe, as seen in individuals who require full assistance with daily living. For this reason, a diagnosis can sometimes lead to more questions than answers, as parents have no way of knowing what their child’s developmental trajectory will be until they watch it unfold.

“When Lily was first diagnosed, it meant very little to us because so few kids had this condition,” says Lily's dad, Ben. “We had no information about what it would mean for her future. For a long time, we kind of wandered in the dark without ‘fellow travelers’ to guide us.”

Finding ‘fellow travelers’ 

That changed when Lily’s family  connected with the STXBP1 Foundation, an organization dedicated to improving the lives of families affected by STXBP1-related disorders through research partnerships, education and efforts to accelerate better treatments and hopefully one day find a cure.

In 2022, the family traveled to Colorado to attend the STXBP1 Foundation’s Annual Summit, a gathering of families, researchers and industry partners who share the latest scientific breakthroughs and strengthen community bonds. 

“Suddenly, we had a whole bunch of fellow travelers,” says Ben. 

Through the STXBP1 Foundation, Lily and her parents began to connect with other families navigating a similar journey. 

“We were very fortunate to meet other families with girls who bonded with Lily,” says Karen, Lily’s mom. “It was comforting to not only have a diagnosis, but to also finally be part of a larger community.”

When Ben and Karen learned about a research study at CHOP, they knew they wanted Lily to be involved.

“We just feel so blessed, and we want to help advance knowledge about this disorder as best we can,” says Karen.

Narrowing the unknown

The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is an effort between CHOP and the University of Pennsylvania to develop and translate novel therapeutics for rare, genetic neurodevelopmental disorders, including STXBP1. Ingo Helbig, MD, is the Clinical Director of ENDD and leads a team of researchers committed to addressing the pressing questions and gaps in knowledge that currently surround these disorders.

The ENDD clinic is the main site for the STARR study, a natural history study aimed at making STXBP1-related disorders ready for clinical trials, which could ultimately be used to demonstrate the effectiveness of new therapies to drug-approving agencies like the FDA.

Lily and her parents travel from their home in Boston to Philadelphia twice a year. In the ENDD clinic, Dr. Helbig and his team have the possibility of putting Lily’s progress into context with more than 150 other children with STXBP1-related disorders. Because Lily has milder symptoms of STXBP1- related disorder, she represents a unique range of how the condition can appear. Her participation in the study may help researchers learn why symptoms differ from person to person and potentially identify genetic factors linked to milder clinical presentations.

This is the start of narrowing the vast unknown for parents when a child is newly diagnosed with a STXBP1-related disorder. Continued research could one day enable doctors to give families clear answers about their child’s trajectory and even guide more personalized treatments. These are the answers Ben and Karen wanted when Lily was diagnosed. And it’s why they are committed to helping science get there.

Says Ben, “To be able to know what to expect for my child’s future, to plan for their life after my death, to understand what’s realistic progress – as a special needs parent, that’s everything.”